All individuals with variants in gene WDR19

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

55 entries on 1 page. Showing entries 1 - 55.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00016535	-	PubMed: Bredrup 2011	-	F	?	Norway	?	-	-	-	-	CED	-	2	1	Heleen Arts
00016536	-	PubMed: Bredrup 2011	-	M	?	Norway	?	-	-	-	-	CED	-	2	1	Heleen Arts
00016537	-	PubMed: Bredrup 2011, PubMed: de Vries 2010	-	F	?	Netherlands	?	-	-	-	-	SRTD1	-	2	1	Heleen Arts
00016538	-	PubMed: Bredrup 2011	Brother of patients NPHP II-3, NPHP II-5 and NPHP II-6	M	?	Morocco	?	-	-	-	-	NPHP1	-	2	1	Heleen Arts
00016539	-	PubMed: Bredrup 2011	Sister of patients NPHP II-1, NPHP II-5 and NPHP II-6	F	?	Morocco	?	-	-	-	-	NPHP1	-	2	1	Heleen Arts
00016540	-	PubMed: Bredrup 2011	Sister of patients NPHP II-1, NPHP II-3 and NPHP II-6	F	?	Morocco	?	-	-	-	-	NPHP1	-	2	1	Heleen Arts
00016541	-	PubMed: Bredrup 2011	Sister of patients NPHP II-1, NPHP II-3 and NPHP II-5	F	?	Morocco	?	-	-	-	-	NPHP1	-	2	1	Heleen Arts
00016542	-	PubMed: Coussa 2013	-	F	?	Canada	Quebec	-	-	-	-	RP	characteristic arRP findings with hypopigmented macular atrophy and 'bear track' changes	2	1	Heleen Arts
00016543	-	PubMed: Coussa 2013	-	?	?	-	?	-	-	-	-	SLSN	retinal dystrophy; nephronophthisis; growth retardation	2	1	Heleen Arts
00016544	-	PubMed: Coussa 2013	-	?	?	-	?	-	-	-	-	SLSN	retinal dystrophy; nephronophthisis	2	1	Heleen Arts
00016545	-	PubMed: Halbritter 2013	-	?	?	Egypt	?	-	-	-	-	Caroli	5y end-stage renal disease	2	1	Heleen Arts
00016546	-	PubMed: Halbritter 2013	-	?	?	Oman	?	-	-	-	-	Caroli	polydactyly; retinal dystrophy; end-stage renal disease before 1y of age	2	1	Heleen Arts
00016547	-	PubMed: Halbritter 2013	-	?	?	United States	?	-	-	-	-	Caroli	coritcal blindness; pancreatic cysts; hepatic cysts; end-stage renal disease <1y of age	2	1	Heleen Arts
00016548	-	PubMed: Coussa 2013	family with 6 affecteds.	M	yes	Canada	Quebec	-	-	-	-	RP	characteristic arRP with hypopigmented macular atrophy and bear track changes; bilateral congenital subclinical renal cysts; mild cognitive impairment	1	6	Heleen Arts
00016552	-	PubMed: Fehrenbach 2014	This is a new phenotype in the phenotypic spectrum associated with WDR19 mutations (not yet annotated in OMIM). The patient had hypotonia, facial dysmorphisms, psychomotor delay, short stature, mild skeletal abnormalities, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal disease (tubular atrophy, interstital fibrosis and segmental glomerulosclerosis)	F	?	-	Philippine	08y	-	-	hemodialysis; renal transplantation	-	-	1	1	Heleen Arts
00269587	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	1	1	Jinu Han
00269588	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	1	1	Jinu Han
00293616	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	106	Mohammed Faruq
00293617	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00302691	P7	PubMed: Al Alawi 2019, Journal: Al Alawi 2019	-	M	-	Oman	-	-	-	-	-	PKD	-	1	1	Intisar Al Alawi
00302719	P49	PubMed: Al Alawi 2019, Journal: Al Alawi 2019	-	F	-	Oman	-	-	-	-	-	PKD	-	1	1	Intisar Al Alawi
00304995	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00331590	12DG1471	PubMed: Maddirevula 2018	isolated case	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Rod-cone dystrophy	1	1	LOVD
00331591	13DG1415	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Renal insufficiency, Oral cleft, Abnormal facial shape, Bifid nose, Short nose, Microdontia, No	1	1	LOVD
00331592	16DG0371	PubMed: Maddirevula 2018	isolated case	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Abnormal facial shape,Narrow palpebral fissure, Polydactyly, Syndactyly, Global developmNo	1	1	LOVD
00332394	Pat15	PubMed: Essilfie 2018	-	F	-	Korea	-	-	-	-	-	retinal disease	horizontal pendular nystagmus changed to VJ; fundus pigmentary changes; oculodigital sign; ERG extinguished; renal failure, liver failure	1	1	LOVD
00334001	498	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB	2	1	LOVD
00334262	825	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IIA	2	2	LOVD
00358790	BLM071	PubMed: Zhang 2016	family	F	-	United States	Hispanic	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00359412	03149	-	-	F	?	Argentina	-	-	-	-	-	CED	-	1	1	Maria Dora Jazmin Lacarrubba-Flores
00359414	03149	-	-	F	no	Brazil	-	-	-	-	-	CED	-	1	1	Maria Dora Jazmin Lacarrubba-Flores
00359415	03149	-	-	F	no	Brazil	-	-	-	-	-	CED	-	1	1	Maria Dora Jazmin Lacarrubba-Flores
00359445	-	-	-	-	-	(Brazil)	-	-	-	-	-	SRTD	-	1	1	Cynthia Silveira
00359449	-	-	-	-	-	(Brazil)	-	-	-	-	-	SRTD	-	1	1	Cynthia Silveira
00363706	12DG1471	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00375419	RP#011	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00375430	RP#024	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00386614	121-047	PubMed: Zampaglione-2020	-	?	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386658	121-244	PubMed: Zampaglione-2020	-	?	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00388179	36	PubMed: Surl 2020	individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database	F	-	Korea	-	-	-	-	-	retinal disease	Nystagmus: 2Hz DBJ bilateral symmetric, multidirectional, best corrected visual acuity right eye/left eye: 0.1/0.05, fundus: Pigmentary retinopathy, ERG: Extinguished, additional features: Nephronophthisis, Caroli disease	1	1	LOVD
00388180	37	PubMed: Surl 2020	-	M	-	Korea	-	-	-	-	-	retinal disease	Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: FC/FC, fundus: Pigmentary retinopathy, Marbled fundus, ERG: Extinguished, additional features: Chronic pancreatitis, Nephronophthisis, Caroli disease, Hypotonia, Mental retardation, Leigh-like syndrome	2	1	LOVD
00388403	R00-304	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388404	R01-210A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388405	R04-526A	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388406	R05-449C	PubMed: Zhang-2019	-	-	-	-	white	-	-	-	-	?	-	2	1	LOVD
00388407	R09-396A	PubMed: Zhang-2019	-	-	-	-	African American	-	-	-	-	?	-	2	1	LOVD
00388408	R15-017A	PubMed: Zhang-2019	-	-	-	-	Pacific Islander	-	-	-	-	?	-	2	1	LOVD
00388468	R03-383A	PubMed: Zhang-2019	Unsolved case: biallelic causative mutations not identify	-	-	-	Latino	-	-	-	-	?	-	1	1	LOVD
00393997	-	PubMed: Fuster-Garcia-2019	-	-	-	-	Spanish	-	-	-	-	retinal disease	Thalassemia minor, nyctalopia, fundoscopy.	2	1	LOVD
00394807	172-223	PubMed: Kim 2021	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	inherited retinal disease other than retinitis pigmentosa	2	1	LOVD
00399827	857	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399828	1004	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399829	1025	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399830	611	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399831	415	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

WDR19 (WD repeat domain 19)